Research

Research on Tuberous Sclerosis Complex (TSC) focuses on its genetic basis, multi-organ manifestations, and the urgent need for coordinated, specialised care, with recent studies revealing care fragmentation and identifying biomarkers and genes linked to symptom severity, driving clinical trials for new treatments. Key research areas include understanding TAND (TSC-Associated Neuropsychiatric Disorders), improving diagnostic consistency, and developing networks of excellence for patient management. 

Key Publications

TSC Consensus Clinical Guidelines: https://www.tscalliance.org/wp-content/uploads/2022/09/2021-Updated-TSC-DiagnosticCriteria-Surveillance-and-Management-Recommendations.pdf

TAND guidelines: International consensus recommendations for the identification and treatment of tuberous sclerosis complex‑associated neuropsychiatric disorders. de Vries et al. Journal of Neurodevelopmental Disorders (2023) 15:32 (TAND): https://static1.squarespace.com/static/6874ee95ac182020f53b93c7/t/688a77d1173fd71ba7364ccc/1753905105317/Vries_et_al-2023-

Renal Guidelines: Clinical practice recommendations for kidney involvement in tuberous sclerosis complex Nature Reviews Nephrology volume 20, pages402–420 (2024) https://rdcu.be/e0K1P Mekhali et al

Key publications in Ireland

Research info from TSC organisations

They also provide specialized Navigation Guides for different life stages.

Research info from academia

PubMed: The primary database for searching peer-reviewed medical journal articles and summaries on TSC. https://pubmed.ncbi.nlm.nih.gov/

National Institutes of Health (NIH): Scientists use the NIH RePORTER database to find federally funded TSC research projects and linked publications. https://reporter.nih.gov/

NIH (National Institutes of Health) (NCBI Bookshelf): Hosts GeneReviews and other foundational research.

ScienceDirect https://www.sciencedirect.com/

Natural History Databases: Data from organizations like the TSC Alliance (TSC Alliance) powers research on symptom correlations and disease progression.

Leiden Open Variation Database (LOVD) tracks gene variants: https://www.lovd.nl/

How to get involved in research

There are several ways to get involved in research and clinical trials. Please contact info@TSCIreland who may be aware of other relevant research additional to the projects mentioned below and will put you in contact with them.

Patient registries

Patient registries are a way for people to share their experiences, this data helps build stronger research. Patients are recruited to registries by consultants and their teams at hospitals around Ireland.  If you or someone you know has an interest please contact your doctor or hospital clinical team.

Current Patient Registers in The Republic of Ireland

Eager Register

Development and Establishment of a Register of Patients with Epilepsy caused by Genetic Mutations – The Epilepsy Associated Gene Ready Register (EAGER). The aim is to set up an Irish register of patients with epilepsy due to known genetic mutations. 

All adults with a diagnosis of TSC are encouraged to enrol in this register.

For information please contact info@tscireland.org.

ReGarDs Register: Research Use of Diagnostic Genomic Testing Data for Epilepsy

Significant volumes of genetic data are now produced in the clinical setting, The aim of this register is for researchers to examine the data in greater detail than doctors are able to do in busy hospital settings. 

Please email info@tscireland.org.

The EpiFUN study: Correlations between phenotype, genotype and functional analysis in the (neuro)genetic disorders of childhood

This study is to understand more about the causes of disease in childhood, in particular genetic disorders of childhood.

Please email info@tscireland.org.

CINDI Registry (confirmed genetic diagnosis) 

The aim of this study is to have a registry for children and young people with confirmed neurogenetic conditions so that they may be contacted should a suitable treatment, trial or research study become available.

If your child has a confirmed neurogenetic condition and you would like to consider being part of this study please send an email to cindireg@childrenshealthireland.ie